NM_001110219.3(GJB6):c.489G>A (p.Leu163=) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 17, 2013
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000038708.10

Allele description [Variation Report for NM_001110219.3(GJB6):c.489G>A (p.Leu163=)]

NM_001110219.3(GJB6):c.489G>A (p.Leu163=)

Gene:

GJB6:gap junction protein beta 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_001110219.3(GJB6):c.489G>A (p.Leu163=)

HGVS:

NC_000013.11:g.20222992C>T
NG_008323.1:g.14404G>A
NM_001110219.3:c.489G>AMANE SELECT
NM_001110220.3:c.489G>A
NM_001110221.3:c.489G>A
NM_001370090.1:c.489G>A
NM_001370091.1:c.489G>A
NM_001370092.1:c.489G>A
NM_006783.5:c.489G>A
NP_001103689.1:p.Leu163=
NP_001103690.1:p.Leu163=
NP_001103691.1:p.Leu163=
NP_001357019.1:p.Leu163=
NP_001357020.1:p.Leu163=
NP_001357021.1:p.Leu163=
NP_006774.2:p.Leu163=
NP_006774.2:p.Leu163=
LRG_1395t1:c.489G>A
LRG_1395:g.14404G>A
LRG_1395p1:p.Leu163=
NC_000013.10:g.20797131C>T
NM_006783.4:c.489G>A
NP_006774.2:p.(=)
c.489G>A
p.Leu163Leu

Links:

dbSNP: rs35002004

NCBI 1000 Genomes Browser:

rs35002004

Molecular consequence:

NM_001110219.3:c.489G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001110220.3:c.489G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001110221.3:c.489G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370090.1:c.489G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370091.1:c.489G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370092.1:c.489G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_006783.5:c.489G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000062386	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Oct 17, 2013)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10610709, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000062386

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Oct 17, 2013)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	14	14	not provided	not provided	not provided	clinical testing

Citations

PubMed

Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.

Kelley PM, Abe S, Askew JW, Smith SD, Usami Si, Kimberling WJ.

Genomics. 1999 Dec 1;62(2):172-6.

PubMed [citation]

PMID:: 10610709

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062386.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	14	not provided	not provided	clinical testing	PubMed (2)

Description

This variant is not expected to have clinical significance because it does not a lter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.5% (43/8600) of European American chromosomes by th e NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs350 02004).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		14	not provided	14	not provided

Last Updated: Apr 15, 2024

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